Evidence map›Paper›PMID 23341834›Full record

ArticleNephron extra2012

Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter's Syndrome.

Hercílio Martelli-Júnior, Shirlene Pimentel Ferreira, Paula Cristina B Pereira, Ricardo D Coletta, Sibele Nascimento de Aquino, Débora Marques Miranda, Ana Cristina Simões E Silva

Open access · goldAbstract readCase Reports
In one paragraph

Article in Nephron extra, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.7field-weighted citation impact, top 28% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Article
  3. Abnormal teeth and renal calcifications: Answers.Pediatric nephrology (Berlin, Germany) · 2023
    Article
  4. Article
  5. Late-onset Bartter syndrome type II.Clinical kidney journal · 2017
    Article
  6. Amelogenesis imperfecta and nephrocalcinosis syndrome.Indian journal of nephrology · 2014
    Article
  7. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 1 country.

Hercílio Martelli-JúniorStomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Brazil.
Shirlene Pimentel Ferreira
Paula Cristina B Pereira
Ricardo D Coletta
Sibele Nascimento de Aquino
Débora Marques Miranda
Ana Cristina Simões E Silva
Universidade Federal de Minas Gerais · BRUniversidade Estadual de Campinas (UNICAMP) · BRUniversidade Estadual de Montes Claros · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

aimsAmelogenesis imperfecta (AI) is due to many inherited defects of enamel formation that affect the quantity and quality of enamel, leading to delay in tooth eruption and cosmetic consequences. AI has been described in association with nephrocalcinosis, which is called the enamel-renal syndrome. The aim of this case report is to describe typical features of AI in 2 patients with Bartter's syndrome (BS) for the first time.

methods-Eight patients with confirmed BS were systematically screened for dental abnormalities as part of protocol. Those with suggestive clinical features of AI were submitted to panoramic X-ray and decayed teeth were analyzed by scanning electron microscopy.

resultsTypical features of AI were detected in 2 girls with BS. These 2 patients showed nephrocalcinosis, and diagnosis and adequate clinical control were delayed. Genetic analysis detected the mutation responsible for BS in 1 of these patients. In this case, BS was due to a homozygous mutation of exon 5 of the KCNJ1 gene resulting in a substitution of valine for alanine at the codon 214 (A214V).

conclusionsThe finding of typical features of AI in BS might constitute preliminary evidence that abnormalities of the biomineralization process found in patients with renal tubular disorders might also affect calcium deposition in dental tissues.

Indexed as

Amelogenesis imperfectaBartter's syndromeEnamelGenetics

Identifiers

PMID23341834
PMCPMC3551389
OpenAlexW1994315284

What OpenQuestion holds

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LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.